First-trimester screening-biomarkers and cell-free DNA

Suciu, I; Galeva, S.; Azim, Samira Abdel; Pop, Lucian; Toader, Oana

doi:10.1080/14767058.2019.1698031

Cited by 11 publications

(5 citation statements)

References 44 publications

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“…In Japan, many small clinics still perform the traditional 4-serum marker test, which is no longer recommended in the United States. 2 On the other hand, some countries around the world have decided that NIPT cannot be introduced as a screening test because of its high cost 7,25 and the 4-serum marker test remains an option for the time being. From this point of view, it is important to clearly present these options other than NIPT to GC clients.…”

Section: Discussionmentioning

confidence: 99%

Change in client choice under multiple prenatal genetic testing options including noninvasive prenatal testing (NIPT) after genetic counseling in a Japanese maternity hospital

Naruse

Pooh

Kyukawa³

et al. 2023

J of Obstet and Gynaecol

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ObjectiveThis study examined how clients' selection and preference for noninvasive prenatal testing (NIPT) for aneuploidy changed with genetic counseling (GC) performed by certified geneticists at a primary hospital specializing in obstetrics, where other multiple prenatal genetic tests options were available.MethodsA total of 334 couples who underwent GC between 2017 and 2019 were included in the study. The average age of the pregnant women who underwent GC was 35.1 years.ResultsAmong the 95 couples (28.4%) who wanted NIPT at the start of GC, 10 (10.5%) switched to other tests, and 4 (4.2%) chose not to undergo any test. Among the 106 (31.7%) couples who wanted the combination of ultrasonography and the serum marker test, 12 (11.3%) chose not to undergo the test. Among the 92 (27.5%) couples who were undecided before GC, 21 (22.8%) wanted NIPT, 31 (33.7%) selected combined tests, and 18 (19.6%) did not undergo any test.ConclusionWe have demonstrated the significance of GC before prenatal genetic testing under widespread use of NIPT. Ideally, obstetric facilities should provide GC, or at least, pre‐counseling at their own facilities, and offer multiple prenatal genetic testing options or refer to other facilities for the same.

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Section: Discussionmentioning

confidence: 99%

Change in client choice under multiple prenatal genetic testing options including noninvasive prenatal testing (NIPT) after genetic counseling in a Japanese maternity hospital

Naruse

Pooh

Kyukawa³

et al. 2023

J of Obstet and Gynaecol

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“…This is an important clue, particularly when the paradigm of first-trimester screening is shifted toward cf DNA. In some countries, a first-trimester ultrasound scan is no longer part of the screening protocol [20][21][22][23]. Cf DNA screening without ultrasound will miss cases with increased NT, which is a valuable tool even in cases without apparent anomalies.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

et al. 2021

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Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm. Sonographic findings suggest congenital High Airway Obstruction Syndrome (CHAOS) An ultrasound scan and fetal MRI were not able to point out the exact obstruction level. In spite of extensive counselling, the parents opted to carry on with the pregnancy. Fetal demise was noted on a scan at 19 weeks gestation. After the elective termination of pregnancy, a post-mortem examination showed partial tracheal atresia with no other anomalies. Despite technological progress in CHAOS syndrome, a precise diagnosis and accurate prognosis remain elusive.

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“…NIPT is an advanced screening test for trisomies 21, 18, and 13 and sex chromosome aberrations [31,32], but has currently no value in the detection of many other chromosomal abnormalities.…”

Section: Structural Defects Detectable With 3d Ultrasound In the Firs...mentioning

confidence: 99%

The role of ultrasound in first-trimester screening after the introduction of NIPT as a service of public health insurance – a consensus statement of the Fetal Medicine Foundation (FMF) Germany

Merz¹,

Eiben

Thode³

et al. 2023

Ultraschall Med

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Combined first-trimester screening (FTS) and noninvasive prenatal testing (NIPT) have been proven to be reliable noninvasive procedures to detect the most common chromosomal abnormalities (trisomies 21, 18, 13) in the first trimester. The aim of this paper is to demonstrate the strengths and limitations of these two procedures and to give a consensus statement of the Fetal Medicine Foundation (FMF) Germany on how to use the two techniques in the first trimester after the introduction of NIPT as a service of the statutory health insurance companies in Germany.

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First-trimester screening-biomarkers and cell-free DNA

Cited by 11 publications

References 44 publications

Change in client choice under multiple prenatal genetic testing options including noninvasive prenatal testing (NIPT) after genetic counseling in a Japanese maternity hospital

Change in client choice under multiple prenatal genetic testing options including noninvasive prenatal testing (NIPT) after genetic counseling in a Japanese maternity hospital

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

The role of ultrasound in first-trimester screening after the introduction of NIPT as a service of public health insurance – a consensus statement of the Fetal Medicine Foundation (FMF) Germany

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